T32S (p.Thr32Ser) variant of AIP (AH receptor-interacting protein)
T32S (p.Thr32Ser) in AIP (AH receptor-interacting protein) is a missense change. Clinical records from ClinVar, EBI, and UniProt describe it as uncertain significance in the context of not provided. The available variant effect predictions contribute to a CATVariant prioritization score of 0.49 / 1. The record also includes population frequency data and structural context.
T32S (p.Thr32Ser) variant details
- p.Thr32Ser
- rs1249018718
- ClinGen CA381545893
- ClinVar RCV003880009
- TOPMed rs1249018718
- Uncertain significance
- not provided
- Missense
- Variant Prioritization Score for Impact Estimate 0.493
- REVEL 0.36
- MetaLR 0.44
- MetaSVM -0.45
- CADD 20.40
- PolyPhen-2 0.07
- SIFT 0.66
- ClinVar: Uncertain significance (not provided)
- EBI: Variant of uncertain significance
- UniProt: Uncertain significance
- Most common in the African/African-American population (allele frequency 0.00012)
- Structural context available